Briard M L, Kaplan J, Le Merrer M, Frézal J
Arch Fr Pediatr. 1985 Mar;42(3):151-7.
From their personal experience, the authors demonstrate that, in spite of increased requests in general, couples in underprivileged socio-cultural classes are insufficiently concerned by genetic counselling; on the contrary it is too often requested by women who are already pregnant. They emphasize the necessity of providing information to all at risk couples and the essential part taken by family doctors. They discuss the difficulties of geneticists when consulters do not express a real question or wait to be given a rule of behaviour. Antenatal diagnosis (proposed to 2 of every 5 couples in 1983) changed the concept of genetic counselling by replacing a probability (the risk) by a certainty (the child presents with the disease or is normal). However, one should not look to either genetic counselling or antenatal diagnosis for a considerable decrease in the incidence of affected children.
作者从自身经验出发表明，尽管总体上咨询需求有所增加，但社会文化地位较低阶层的夫妇对遗传咨询的关注不足；相反，已怀孕的女性却常常过度要求进行遗传咨询。他们强调有必要向所有有风险的夫妇提供信息，以及家庭医生所起的关键作用。他们讨论了在咨询者没有提出真正问题或等待被告知行为准则时，遗传学家所面临的困难。产前诊断（1983年每五对夫妇中有两对接受了该项检查）用确定性（孩子患病或正常）取代了概率（风险），从而改变了遗传咨询的概念。然而，人们不应指望遗传咨询或产前诊断能使患病儿童的发病率大幅下降。
